Joshua is one rare little guy

RARE diseases affect more than two million Australians, including one little Port Macquarie boy - Joshua Marshman.

Many are alone in their plight to tackle and come to terms with a debilitating, incredibly unique and life-threatening illness.

Today is international Rare Disease Day.

Rare diseases are defined as a condition, syndrome or disorder that affects 1 in 10,000 people or less and are either life-threatening or chronically debilitating.

Ten-year-old Joshua Marshman is among the 10 per cent of Australian rare disease sufferers.

His condition, labelled as glutaric acidemia type II, is an inherited disorder which interferes with his body's ability to break down proteins and fats to produce energy.

His mother Lynda Gamack hopes Rare Disease Day will help raise awareness of the plight of those considered orphans of the medical world.

"We are the forgotten people, the ones that people don't see, we aren't popular like cancer or heart disease, we are unknown, unsupported, never funded - invisible," she says. "We battle daily to keep our children alive...

"We fall through the cracks in every sense of the word."

The 2013 slogan - Rare Disorders without Borders - emphasises the need for the world to work together, sharing knowledge and resources, to better understand and treat the different rare diseases identified so far. 

Read more about Joshua's condition and Rare Disease Day in Friday's Port News.

To show your support click here and register.

Joshua Marshman and his mum Lynda Gamack. Pic: Peter Gleeson

Joshua Marshman and his mum Lynda Gamack. Pic: Peter Gleeson


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